Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner.

Abstract:

BACKGROUND:Chromosome 17q21.31 contains a common inversion polymorphism of approximately 900 kb in populations with European ancestry. Two divergent MAPT haplotypes, H1 and H2 are described with distinct linkage disequilibrium patterns across the region reflecting the inversion status at this locus. The MAPT H1 haplotype has been associated with progressive supranuclear palsy, corticobasal degeneration, Parkinson's disease and Alzheimer's disease, while the H2 is linked to recurrent deletion events associated with the 17q21.31 microdeletion syndrome, a disease characterized by developmental delay and learning disability. RESULTS:In this study, we investigate the effect of the inversion on the expression of genes in the 17q21.31 region. We find the expression of several genes in and at the borders of the inversion to be affected; specific either to whole blood or different regions of the human brain. The H1 haplotype was found to be associated with an increased expression of LRRC37A4, PLEKH1M and MAPT. In contrast, a decreased expression of MGC57346, LRRC37A and CRHR1 was associated with H1. CONCLUSIONS:Studies thus far have focused on the expression of MAPT in the inversion region. However, our results show that the inversion status affects expression of other genes in the 17q21.31 region as well. Given the link between the inversion status and different neurological diseases, these genes may also be involved in disease pathology, possibly in a tissue-specific manner.

journal_name

BMC Genomics

journal_title

BMC genomics

authors

de Jong S,Chepelev I,Janson E,Strengman E,van den Berg LH,Veldink JH,Ophoff RA

doi

10.1186/1471-2164-13-458

subject

Has Abstract

pub_date

2012-09-06 00:00:00

pages

458

issn

1471-2164

pii

1471-2164-13-458

journal_volume

13

pub_type

杂志文章
  • Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes.

    abstract:BACKGROUND:The autism spectrum encompasses a set of complex multigenic developmental disorders that severely impact the development of language, non-verbal communication, and social skills, and are associated with odd, stereotyped, repetitive behavior and restricted interests. To date, diagnosis of these neurologically...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-7-118

    authors: Hu VW,Frank BC,Heine S,Lee NH,Quackenbush J

    更新日期:2006-05-18 00:00:00

  • Efficient depletion of ribosomal RNA for RNA sequencing in planarians.

    abstract:BACKGROUND:The astounding regenerative abilities of planarian flatworms prompt steadily growing interest in examining their molecular foundation. Planarian regeneration was found to require hundreds of genes and is hence a complex process. Thus, RNA interference followed by transcriptome-wide gene expression analysis b...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-019-6292-y

    authors: Kim IV,Ross EJ,Dietrich S,Döring K,Sánchez Alvarado A,Kuhn CD

    更新日期:2019-11-29 00:00:00

  • Patterns of gene expression during Arabidopsis flower development from the time of initiation to maturation.

    abstract:BACKGROUND:The formation of flowers is one of the main model systems to elucidate the molecular mechanisms that control developmental processes in plants. Although several studies have explored gene expression during flower development in the model plant Arabidopsis thaliana on a genome-wide scale, a continuous series ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-1699-6

    authors: Ryan PT,Ó'Maoiléidigh DS,Drost HG,Kwaśniewska K,Gabel A,Grosse I,Graciet E,Quint M,Wellmer F

    更新日期:2015-07-01 00:00:00

  • The receptor like kinase at Rhg1-a/Rfs2 caused pleiotropic resistance to sudden death syndrome and soybean cyst nematode as a transgene by altering signaling responses.

    abstract:BACKGROUND:Soybean (Glycine max (L. Merr.)) resistance to any population of Heterodera glycines (I.), or Fusarium virguliforme (Akoi, O'Donnell, Homma & Lattanzi) required a functional allele at Rhg1/Rfs2. H. glycines, the soybean cyst nematode (SCN) was an ancient, endemic, pest of soybean whereas F. virguliforme caus...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-13-368

    authors: Srour A,Afzal AJ,Blahut-Beatty L,Hemmati N,Simmonds DH,Li W,Liu M,Town CD,Sharma H,Arelli P,Lightfoot DA

    更新日期:2012-08-02 00:00:00

  • Genome-wide transcriptome analysis of the transition from primary to secondary stem development in Populus trichocarpa.

    abstract:BACKGROUND:With its genome sequence and other experimental attributes, Populus trichocarpa has become the model species for genomic studies of wood development. Wood is derived from secondary growth of tree stems, and begins with the development of a ring of vascular cambium in the young developing stem. The terminal r...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-11-150

    authors: Dharmawardhana P,Brunner AM,Strauss SH

    更新日期:2010-03-04 00:00:00

  • Substrate-dependent gene regulation of self-assembled human MSC spheroids on chitosan membranes.

    abstract:BACKGROUND:Three-dimensional (3D) multicellular spheroids of mesenchymal stem cells (MSCs) are generally regarded to have beneficial properties over MSCs in monolayer. Recent literatures have documented that MSCs can self-assemble into 3D spheroids with a greater capacity for differentiation into various cell types whe...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-10

    authors: Yeh HY,Liu BH,Sieber M,Hsu SH

    更新日期:2014-01-05 00:00:00

  • Integrative analysis of single nucleotide polymorphisms and gene expression efficiently distinguishes samples from closely related ethnic populations.

    abstract:BACKGROUND:Ancestry informative markers (AIMs) are a type of genetic marker that is informative for tracing the ancestral ethnicity of individuals. Application of AIMs has gained substantial attention in population genetics, forensic sciences, and medical genetics. Single nucleotide polymorphisms (SNPs), the materials ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-13-346

    authors: Yang HC,Wang PL,Lin CW,Chen CH,Chen CH

    更新日期:2012-07-28 00:00:00

  • Comparative transcriptomics of early petal development across four diverse species of Aquilegia reveal few genes consistently associated with nectar spur development.

    abstract:BACKGROUND:Petal nectar spurs, which facilitate pollination through animal attraction and pollen placement, represent a key innovation promoting diversification in the genus Aquilegia (Ranunculaceae). Identifying the genetic components that contribute to the development of these three-dimensional structures will inform...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-019-6002-9

    authors: Ballerini ES,Kramer EM,Hodges SA

    更新日期:2019-08-22 00:00:00

  • Genome-wide study on genetic diversity and phylogeny of five species in the genus Cervus.

    abstract:BACKGROUND:Previous investigations of phylogeny in Cervus recovered many clades without whole genomic support. METHODS:In this study, the genetic diversity and phylogeny of 5 species (21 subspecies/populations from C. unicolor, C. albirostris, C. nippon, C. elaphus and C. eldii) in the genus Cervus were analyzed using...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-019-5785-z

    authors: Hu P,Shao Y,Xu J,Wang T,Li Y,Liu H,Rong M,Su W,Chen B,Cui S,Cui X,Yang F,Tamate H,Xing X

    更新日期:2019-05-17 00:00:00

  • LPS-treatment of bovine endometrial epithelial cells causes differential DNA methylation of genes associated with inflammation and endometrial function.

    abstract:BACKGROUND:Lipopolysaccharide (LPS) endotoxin stimulates pro-inflammatory pathways and is a key player in the pathological mechanisms involved in the development of endometritis. This study aimed to investigate LPS-induced DNA methylation changes in bovine endometrial epithelial cells (bEECs), which may affect endometr...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-06777-7

    authors: Jhamat N,Niazi A,Guo Y,Chanrot M,Ivanova E,Kelsey G,Bongcam-Rudloff E,Andersson G,Humblot P

    更新日期:2020-06-03 00:00:00

  • Liver proteome response of pre-harvest Atlantic salmon following exposure to elevated temperature.

    abstract:BACKGROUND:Atlantic salmon production in Tasmania (Southern Australia) occurs near the upper limits of the species thermal tolerance. Summer water temperatures can average over 19 °C over several weeks and have negative effects on performance and health. Liver tissue exerts important metabolic functions in thermal adap...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-018-4517-0

    authors: Nuez-Ortín WG,Carter CG,Nichols PD,Cooke IR,Wilson R

    更新日期:2018-02-12 00:00:00

  • Disruption of the pleiotropic gene scoC causes transcriptomic and phenotypical changes in Bacillus pumilus BA06.

    abstract:BACKGROUND:Bacillus pumilus is a Gram-positive and endospore-forming bacterium broadly existing in a variety of environmental niches. Because it produces and secrets many industrially useful enzymes, a lot of studies have been done to understand the underlying mechanisms. Among them, scoC was originally identified as a...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-019-5671-8

    authors: Han LL,Liu YC,Miao CC,Feng H

    更新日期:2019-04-30 00:00:00

  • Combined Transcriptome and Metabolome analysis of Pitaya fruit unveiled the mechanisms underlying Peel and pulp color formation.

    abstract:BACKGROUND:Elucidating the candidate genes and key metabolites responsible for pulp and peel coloration is essential for breeding pitaya fruit with new and improved appeal and high nutritional value. Here, we used transcriptome (RNA-Seq) and metabolome analysis (UPLC-MS/MS) to identify structural and regulatory genes a...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-07133-5

    authors: Zhou Z,Gao H,Ming J,Ding Z,Lin X,Zhan R

    更新日期:2020-10-22 00:00:00

  • Discovery of cashmere goat (Capra hircus) microRNAs in skin and hair follicles by Solexa sequencing.

    abstract:BACKGROUND:MicroRNAs (miRNAs) are a large family of endogenous, non-coding RNAs, about 22 nucleotides long, which regulate gene expression through sequence-specific base pairing with target mRNAs. Extensive studies have shown that miRNA expression in the skin changes remarkably during distinct stages of the hair cycle ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-511

    authors: Yuan C,Wang X,Geng R,He X,Qu L,Chen Y

    更新日期:2013-07-28 00:00:00

  • Pseudomonas aeruginosa clinical and environmental isolates constitute a single population with high phenotypic diversity.

    abstract:BACKGROUND:Pseudomonas aeruginosa is an opportunistic pathogen with a high incidence of hospital infections that represents a threat to immune compromised patients. Genomic studies have shown that, in contrast to other pathogenic bacteria, clinical and environmental isolates do not show particular genomic differences. ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-318

    authors: Grosso-Becerra MV,Santos-Medellín C,González-Valdez A,Méndez JL,Delgado G,Morales-Espinosa R,Servín-González L,Alcaraz LD,Soberón-Chávez G

    更新日期:2014-04-28 00:00:00

  • GPR99, a new G protein-coupled receptor with homology to a new subgroup of nucleotide receptors.

    abstract:BACKGROUND:Based on sequence similarity, the superfamily of G protein-coupled receptors (GPRs) can be subdivided into several subfamilies, the members of which often share similar ligands. The sequence data provided by the human genome project allows us to identify new GPRs by in silico homology screening, and to predi...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-3-17

    authors: Wittenberger T,Hellebrand S,Munck A,Kreienkamp HJ,Schaller HC,Hampe W

    更新日期:2002-07-05 00:00:00

  • Transcriptomic analysis of the response of Acropora millepora to hypo-osmotic stress provides insights into DMSP biosynthesis by corals.

    abstract:BACKGROUND:Dimethylsulfoniopropionate (DMSP) is a small sulphur compound which is produced in prodigious amounts in the oceans and plays a pivotal role in the marine sulfur cycle. Until recently, DMSP was believed to be synthesized exclusively by photosynthetic organisms; however we now know that corals and specific ba...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-3959-0

    authors: Aguilar C,Raina JB,Motti CA,Fôret S,Hayward DC,Lapeyre B,Bourne DG,Miller DJ

    更新日期:2017-08-14 00:00:00

  • Identification of novel aspartic proteases from Strongyloides ratti and characterisation of their evolutionary relationships, stage-specific expression and molecular structure.

    abstract:BACKGROUND:Aspartic proteases are known to play an important role in the biology of nematode parasitism. This role is best characterised in blood-feeding nematodes, where they digest haemoglobin, but they are also likely to play important roles in the biology of nematode parasites that do not feed on blood. In the pres...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-10-611

    authors: Mello LV,O'Meara H,Rigden DJ,Paterson S

    更新日期:2009-12-16 00:00:00

  • Cell periphery-related proteins as major genomic targets behind the adaptive evolution of an industrial Saccharomyces cerevisiae strain to combined heat and hydrolysate stress.

    abstract:BACKGROUND:Laboratory evolution is an important tool for developing robust yeast strains for bioethanol production since the biological basis behind combined tolerance requires complex alterations whose proper regulation is difficult to achieve by rational metabolic engineering. Previously, we reported on the evolved i...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-1737-4

    authors: Wallace-Salinas V,Brink DP,Ahrén D,Gorwa-Grauslund MF

    更新日期:2015-07-09 00:00:00

  • Using genomic resources for linkage analysis in Peromyscus with an application for characterizing Dominant Spot.

    abstract:BACKGROUND:Peromyscus are the most common mammalian species in North America and are widely used in both laboratory and field studies. The deer mouse, P. maniculatus and the old-field mouse, P. polionotus, are closely related and can generate viable and fertile hybrid offspring. The ability to generate hybrid offspring...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-06969-1

    authors: Shang Z,Horovitz DJ,McKenzie RH,Keisler JL,Felder MR,Davis SW

    更新日期:2020-09-11 00:00:00

  • Biological networks in Parkinson's disease: an insight into the epigenetic mechanisms associated with this disease.

    abstract:BACKGROUND:Parkinson's disease (PD) is the second most prevalent neurodegenerative disorders in the world. Studying PD from systems biology perspective involving genes and their regulators might provide deeper insights into the complex molecular interactions associated with this disease. RESULT:We have studied gene co...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-4098-3

    authors: Chatterjee P,Roy D,Bhattacharyya M,Bandyopadhyay S

    更新日期:2017-09-12 00:00:00

  • Highly plastic genome of Microcystis aeruginosa PCC 7806, a ubiquitous toxic freshwater cyanobacterium.

    abstract:BACKGROUND:The colonial cyanobacterium Microcystis proliferates in a wide range of freshwater ecosystems and is exposed to changing environmental factors during its life cycle. Microcystis blooms are often toxic, potentially fatal to animals and humans, and may cause environmental problems. There has been little invest...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-9-274

    authors: Frangeul L,Quillardet P,Castets AM,Humbert JF,Matthijs HC,Cortez D,Tolonen A,Zhang CC,Gribaldo S,Kehr JC,Zilliges Y,Ziemert N,Becker S,Talla E,Latifi A,Billault A,Lepelletier A,Dittmann E,Bouchier C,de Marsac NT

    更新日期:2008-06-05 00:00:00

  • Polyploidization and pseudogenization in allotetraploid frog Xenopus laevis promote the evolution of aquaporin family in higher vertebrates.

    abstract:BACKGROUND:Aquaporins (AQPs), as members of the major intrinsic protein (MIP) superfamily, facilitated the permeation of water and other solutes and are involved in multiple biological processes. AQP family exists in almost all living organisms and is highly diversified in vertebrates in both classification and functio...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-06942-y

    authors: Jia Y,Liu X

    更新日期:2020-07-29 00:00:00

  • Hepatocyte RXRalpha deficiency in matured and aged mice: impact on the expression of cancer-related hepatic genes in a gender-specific manner.

    abstract:BACKGROUND:The occurrence of liver cancer is higher in males than in females, and the incidence increases during aging. Signaling pathways regulated by retinoid x receptor alpha (RXRalpha) are involved in hepatocellular carcinogenesis. The phenotype of hepatocyte RXRalpha deficient mice is different between genders. To...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-9-403

    authors: Guo M,Gong L,He L,Lehman-McKeeman L,Wan YJ

    更新日期:2008-08-28 00:00:00

  • In silico analysis of the core signaling proteome from the barley powdery mildew pathogen (Blumeria graminis f.sp. hordei).

    abstract:BACKGROUND:Compared to other ascomycetes, the barley powdery mildew pathogen Blumeria graminis f.sp. hordei (Bgh) has a large genome (ca. 120 Mbp) that harbors a relatively small number of protein-coding genes (ca. 6500). This genomic assemblage is thought to be the result of numerous gene losses, which likely represen...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-843

    authors: Kusch S,Ahmadinejad N,Panstruga R,Kuhn H

    更新日期:2014-10-02 00:00:00

  • Changes in Bacillus anthracis CodY regulation under host-specific environmental factor deprived conditions.

    abstract:BACKGROUND:Host-specific environmental factors induce changes in Bacillus anthracis gene transcription during infection. A global transcription regulator, CodY, plays a pivotal role in regulating central metabolism, biosynthesis, and virulence in B. anthracis. In this study, we utilized RNA-sequencing to assess changes...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-016-3004-8

    authors: Kim SK,Jung KH,Chai YG

    更新日期:2016-08-17 00:00:00

  • Cross species comparison of C/EBPα and PPARγ profiles in mouse and human adipocytes reveals interdependent retention of binding sites.

    abstract:BACKGROUND:The transcription factors peroxisome proliferator activated receptor γ (PPARγ) and CCAAT/enhancer binding protein α (C/EBPα) are key transcriptional regulators of adipocyte differentiation and function. We and others have previously shown that binding sites of these two transcription factors show a high degr...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-12-152

    authors: Schmidt SF,Jørgensen M,Chen Y,Nielsen R,Sandelin A,Mandrup S

    更新日期:2011-03-16 00:00:00

  • Evaluation of variant identification methods for whole genome sequencing data in dairy cattle.

    abstract:BACKGROUND:Advances in human genomics have allowed unprecedented productivity in terms of algorithms, software, and literature available for translating raw next-generation sequence data into high-quality information. The challenges of variant identification in organisms with lower quality reference genomes are less we...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-948

    authors: Baes CF,Dolezal MA,Koltes JE,Bapst B,Fritz-Waters E,Jansen S,Flury C,Signer-Hasler H,Stricker C,Fernando R,Fries R,Moll J,Garrick DJ,Reecy JM,Gredler B

    更新日期:2014-11-01 00:00:00

  • Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.

    abstract:BACKGROUND:Crohn's disease (CD) is an inflammatory bowel disease caused by genetic and environmental factors. More than 160 susceptibility loci have been identified for IBD, yet a large part of the genetic variance remains unexplained. Recent studies have demonstrated genetic differences between monozygotic twins, who ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-564

    authors: Petersen BS,Spehlmann ME,Raedler A,Stade B,Thomsen I,Rabionet R,Rosenstiel P,Schreiber S,Franke A

    更新日期:2014-07-05 00:00:00

  • Response of the goat mammary gland to infection with Staphylococcus aureus revealed by gene expression profiling in milk somatic and white blood cells.

    abstract:BACKGROUND:S. aureus is one of the main pathogens responsible for the intra-mammary infection in dairy ruminants. Although much work has been carried out to understand the complex physiological and cellular events that occur in the mammary gland in response to S. aureus, the protective mechanisms are still poorly under...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-13-540

    authors: Cremonesi P,Capoferri R,Pisoni G,Del Corvo M,Strozzi F,Rupp R,Caillat H,Modesto P,Moroni P,Williams JL,Castiglioni B,Stella A

    更新日期:2012-10-09 00:00:00